Quality standards for DNA sequence variation databases to improve clinical management under development in Australia

Despite the routine nature of comparing sequence variations identified during clinical testing to database records, few databases meet quality requirements for clinical diagnostics. To address this issue, The Royal College of Pathologists of Australasia (RCPA) in collaboration with the Human Genetic...

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Detalhes bibliográficos
Publicado no:Appl Transl Genom
Main Authors: Bennetts, B., Caramins, M., Hsu, A., Lau, C., Mead, S., Meldrum, C., Smith, T.D., Suthers, G., Taylor, G.R., Cotton, R.G.H., Tyrrell, V.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
Assuntos:
Special Issue — Inaugural Issue
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4888016/
https://ncbi.nlm.nih.gov/pubmed/27294016
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.atg.2014.07.002
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